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.P66_P67ins5

c.198_199ins15

Surrounding Variants

1 paper

NM_000179.3

p.P66_P67insFs

c.198_199insTT

2 papers

NM_000179.3

p.P66L

c.197C>T

1 paper

NM_000179.3

p.P67fs

c.199_200fs

1 paper

NM_000179.3

p.P67_K68delFs

c.201_202delCA

1 paper

NM_000179.3

p.P66fs

c.196_197fs

2 papers

NM_000179.3

p.P67_A69del0

c.199_207del9

1 paper

NM_000179.3

p.S65S

c.195A>C

3 papers

NM_000179.3

p.K68_A69del2

c.202_206del6

1 paper

NM_000179.3

p.S65*

c.194C>A

1 paper

NM_000179.3

p.S65*

c.194C>G

10 papers

NM_000179.3

p.S65L

c.194C>T

1 paper

NM_000179.3

p.S65_N71delFs

c.195_211del17