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.A339A

c.1017T>C

Surrounding Variants

1 paper

NM_000179.3

p.A339V

c.1016C>T

1 paper

NM_000179.3

p.F340delFs

c.1018_1019delTT

1 paper

NM_000179.3

p.F340L

c.1018T>C

1 paper

NM_000179.3

p.F340V

c.1018T>G

1 paper

NM_000179.3

p.F340fs

c.1018_1019fs

1 paper

NM_000179.3

p.A339T

c.1015G>A

3 papers

NM_000179.3

p.A339S

c.1015G>T

2 papers

NM_000179.3

p.A339delins

c.1015_1016delinsTA

17 papers

NM_000179.3

p.F340S

c.1019T>C

1 paper

NM_000179.3

p.F340L

c.1020C>A

1 paper

NM_000179.3

p.F340L

c.1020C>G

4 papers

NM_000179.3

p.R338K

c.1013G>A