Varaico: Literature-Extracted Genetic Variants

ATM

7,296 papers

RefSeq Summary

The protein encoded by this gene belongs to the PI3/PI4-kinase family. This protein is an important cell cycle checkpoint kinase that phosphorylates; thus, it functions as a regulator of a wide variet...

Pfam Domains

TANaa 8–112UCSCTelomere-length maintenance and DNA damage repair

TANaa 8–165UCSCTelomere-length maintenance and DNA damage repair

FATaa 2096–2489UCSCFAT domain

PI3_PI4_kinaseaa 2713–2962UCSCPhosphatidylinositol 3- and 4-kinase

FATCaa 3025–3056UCSCFATC domain

Gene Aliases

HGNC Name

ATM serine/threonine kinase

HGNC Previous Symbols

ATA; ATDC; ATC; ATD

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

3 papers

NM_000051.4

p.V1161_C1164delFs

c.3481_3491del11

Surrounding Variants

6 papers

NM_000051.4

p.V1160M

c.3478G>A

7 papers

NM_000051.4

p.V1160L

c.3478G>C

7 papers

NM_000051.4

p.V1160L

c.3478G>T

1 paper

NM_000051.4

p.A1159V

c.3476C>T

1 paper

NM_000051.4

p.A1159_V1160delFs

c.3477_3480del4

1 paper

NM_000051.4

p.V1160V

c.3480G>T

1 paper

NM_000051.4

p.A1159T

c.3475G>A

1 paper

NM_000051.4

p.A1159fs

c.3475_3476fs

3 papers

NM_000051.4

p.A1159S

c.3475G>T

1 paper

NM_000051.4

p.V1161delFs

c.3483delT

1 paper

NM_000051.4

p.I1158I

c.3474A>T

1 paper

NM_000051.4

p.A1159delFs

c.3475delG