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

1 paper

NM_000179.3

p.V1262L

c.3784G>C

Surrounding Variants

1 paper

NM_000179.3

p.V1262L

c.3784G>T

7 papers

NM_000179.3

p.R1263C

c.3787C>T

6 papers

NM_000179.3

p.R1263H

c.3788G>A

1 paper

NM_000179.3

p.L1264V

c.3790C>G

4 papers

NM_000179.3

p.V1260I

c.3778G>A

1 paper

NM_000179.3

p.L1264L

c.3792A>G

1 paper

NM_000179.3

p.G1265delFs

c.3794delG

1 paper

NM_000179.3

p.G1265_M1267delFs

c.3794_3801del8

3 papers

NM_000179.3

p.G1265*

c.3793G>T

1 paper

NM_001281492.2

p.N1129_V1130del2

c.3385_3389del6

1 paper

NM_000179.3

p.Q1258K

c.3772C>A

15 papers

NM_000179.3

p.Q1258E

c.3772C>G