Varaico: Literature-Extracted Genetic Variants

MSH6

3,286 papers

RefSeq Summary

This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of a...

Pfam Domains

PWWPaa 1–85UCSCPWWP domain

MutS_Iaa 308–427UCSCMutS domain I

MutS_IIaa 438–604UCSCMutS domain II

MutS_IIIaa 639–965UCSCMutS domain III

MutS_IVaa 833–925UCSCMutS family domain IV

MutS_Vaa 1031–1225UCSCMutS domain V

Gene Aliases

HGNC Name

mutS homolog 6

HGNC Previous Symbol

GTBP

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000179.3

p.K1101N

c.3303G>C

Surrounding Variants

1 paper

NM_000179.3

p.K1101K

c.3303G>A

3 papers

NM_000179.3

p.K1101N

c.3303G>T

6 papers

NM_000179.3

p.T1102fs

c.3304_3305fs

NM_001281492.2

p.T972fs

c.2914_2915fs

1 paper

NM_000179.3

p.T1102insFs

c.3305_3306insA

14 papers

NM_000179.3

p.F1104_G1105insFs

c.3312_3313insT

NM_001281492.2

p.F1104insFs

c.3312dupT

1 paper

NM_000179.3

p.T1102I

c.3305C>T

25 papers

NM_000179.3

p.F1104delFs

c.3312delT

7 papers

NM_000179.3

p.F1104delFs

c.3311_3312delTT

4 papers

NM_000179.3

p.T1100T

c.3300G>A

16 papers

NM_000179.3

p.T1102T

c.3306T>A

NM_001281493.2

p.T800T

c.2400T>A

1 paper

NM_000179.3

p.T1100K

c.3299C>A

6 papers

NM_000179.3

p.T1100R

c.3299C>G