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

5 papers

NM_000051.4

p.V1501F

c.4501G>T

Surrounding Variants

2 papers

NM_000051.4

p.V1501I

c.4501G>A

1 paper

NM_000051.4

p.C1502delFs

c.4504delT

6 papers

NM_000051.4

p.Q1500*

c.4498C>T

1 paper

NM_000051.4

p.C1502S

c.4504T>A

1 paper

NM_000051.4

p.C1502fs

c.4504_4505fs

1 paper

NM_000051.4

p.C1502Y

c.4505G>A

5 papers

NM_000051.4

p.C1502F

c.4505G>T

1 paper

NM_000051.4

p.Q1503delFs

c.4507delC

2 papers

NM_000051.4

p.C1502*

c.4506C>A

1 paper

NM_000051.4

p.T1504_A1505delFs

c.4510_4513del4

1 paper

NM_000051.4

p.S1499insFs

c.4495_4496ins4

12 papers

NM_000051.4

p.Q1503*

c.4507C>T