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.S360N

c.1079G>A

Surrounding Variants

2 papers

NM_000179.3

p.S360I

c.1079G>T

3 papers

NM_000179.3

p.S360G

c.1078A>G

5 papers

NM_000179.3

p.R361C

c.1081C>T

27 papers

NM_000179.3

p.R361H

c.1082G>A

2 papers

NM_000179.3

p.S359insFs

c.1076_1077insT

1 paper

NM_000179.3

p.R361L

c.1082G>T

8 papers

NM_000179.3

p.P362delFs

c.1085delC

1 paper

NM_000179.3

p.S359insFs

c.1076dupG

1 paper

NM_000179.3

p.S359G

c.1075A>G

1 paper

NM_000179.3

p.T363ins0

c.1087_1089dupACT

1 paper

NM_000179.3

p.P362fs

c.1084_1085fs

1 paper

NM_000179.3

p.P362S

c.1084C>T