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

20 papers

NM_000179.3

p.K1358fs

c.4072_4073fs

Surrounding Variants

25 papers

NM_000179.3

p.K1358fs

c.4072_4073fs

1 paper

NM_000179.3

p.K1358E

c.4072A>G

1 paper

NM_000179.3

p.I1357M

c.4071T>G

1 paper

NM_000179.3

p.K1358_E1359del2

c.4072_4076del6

1 paper

NM_000179.3

p.I1357T

c.4070T>C

1 paper

NM_000179.3

p.I1357ins7

c.4070_4071ins21

2 papers

NM_000179.3

p.I1357_K1358delFs

c.4071_4072delTA

7 papers

NM_000179.3

p.E1359insFs

c.4075_4076ins4

2 papers

NM_000179.3

p.E1359fs

c.4075_4076fs

1 paper

NM_000179.3

p.L1356F

c.4068G>C

1 paper

NM_000179.3

p.L1356F

c.4068G>T

1 paper

NM_000179.3

p.L1360I

c.4078T>A