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.W414delFs

c.1241_1242delGG

Surrounding Variants

1 paper

NM_000179.3

p.W414_Q415delFs

c.1241_1244del4

3 papers

NM_000179.3

p.W414*

c.1241G>A

2 papers

NM_000179.3

p.W413*

c.1239G>A

1 paper

NM_000179.3

p.W414insFs

c.1240dupT

3 papers

NM_000179.3

p.W413*

c.1238G>A

3 papers

NM_000179.3

p.W414*

c.1242G>A

1 paper

NM_000179.3

p.W413S

c.1238G>C

1 paper

NM_000179.3

p.W413insFs

c.1238_1239insA

1 paper

NM_000179.3

p.Q415ins1

c.1243_1244insCCT

1 paper

NM_000179.3

p.Q415fs

c.1243_1244fs

1 paper

NM_000179.3

p.Q415E

c.1243C>G

4 papers

NM_000179.3

p.Q415*

c.1243C>T