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

11 papers

NM_000179.3

p.G1139S

c.3415G>A

Surrounding Variants

1 paper

NM_000179.3

p.G1139fs

c.3415_3416fs

2 papers

NM_000179.3

p.G1139fs

c.3415_3416fs

7 papers

NM_000179.3

p.G1139D

c.3416G>A

1 paper

NM_000179.3

p.G1139V

c.3416G>T

2 papers

NM_000179.3

p.G1139delFs

c.3417delC

1 paper

NM_000179.3

p.G1139del1

c.3415_3416delGGC

3 papers

NM_000179.3

p.G1139_Q1146delFs

c.3416_3438del23

1 paper

NM_000179.3

p.K1140insFs

c.3419dupA

1 paper

NM_000179.3

p.G1139G

c.3417C>G

6 papers

NM_000179.3

p.G1139G

c.3417C>T

2 papers

NM_000179.3

p.G1138E

c.3413G>A

2 papers

NM_000179.3

p.K1140fs

c.3418_3419fs