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.G1134V

c.3401G>T

Surrounding Variants

2 papers

NM_000179.3

p.G1134E

c.3401G>A

1 paper

NM_000179.3

p.G1134A

c.3401G>C

2 papers

NM_000179.3

p.P1135insFs

c.3403dupC

14 papers

NM_000179.3

p.P1135_G1139del5

c.3403_3416del15

2 papers

NM_000179.3

p.G1134R

c.3400G>A

3 papers

NM_000179.3

p.G1134R

c.3400G>C

1 paper

NM_000179.3

p.G1134fs

c.3400_3401fs

1 paper

NM_000179.3

p.P1135A

c.3403C>G

1 paper

NM_000179.3

p.T1133A

c.3397A>G

1 paper

NM_000179.3

p.N1136_G1139del4

c.3406_3416del12

3 papers

NM_000179.3

p.N1136D

c.3406A>G

1 paper

NM_000179.3

p.N1136fs

c.3406_3407fs