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

4 papers

NM_000179.3

p.C615S

c.1844G>C

Surrounding Variants

1 paper

NM_000179.3

p.C615F

c.1844G>T

1 paper

NM_000179.3

p.C615_S616del1

c.1845_1847delTTC

4 papers

NM_000179.3

p.C615S

c.1843T>A

3 papers

NM_000179.3

p.C615fs

c.1843_1844fs

1 paper

NM_000179.3

p.S614C

c.1841C>G

3 papers

NM_000179.3

p.S616F

c.1847C>T

3 papers

NM_000179.3

p.S614delFs

c.1842delC

1 paper

NM_000179.3

p.L617_Q618insA

c.1849_1853ins3

1 paper

NM_000179.3

p.L617F

c.1849C>T

1 paper

NM_000179.3

p.L613*

c.1838T>A

2 papers

NM_000179.3

p.L613insFs

c.1839dupG

1 paper

NM_000179.3

p.L613_S614del1

c.1839_1841delGTC