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.E1123_N1124del1

c.3369_3371delAAA

Surrounding Variants

1 paper

NM_000179.3

p.E1123K

c.3367G>A

1 paper

NM_000179.3

p.N1124delFs

c.3371delA

1 paper

NM_000179.3

p.N1124D

c.3370A>G

3 papers

NM_000179.3

p.Q1122*

c.3364C>T

1 paper

NM_000179.3

p.E1121D

c.3363G>C

1 paper

NM_000179.3

p.E1121D

c.3363G>T

2 papers

NM_000179.3

p.E1121K

c.3361G>A

1 paper

NM_000179.3

p.E1121_Q1122ins5

c.3361_3365ins15

1 paper

NM_000179.3

p.E1121*

c.3361G>T

1 paper

NM_000179.3

p.E1120K

c.3358G>A

1 paper

NM_000179.3

p.E1119G

c.3356A>G

1 paper

NM_000179.3

p.K1126K

c.3378A>G