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

1 paper

NM_000051.4

p.I1469T

c.4406T>C

Surrounding Variants

1 paper

NM_000051.4

p.I1469fs

c.4405_4406fs

1 paper

NM_000051.4

p.I1469insFs

c.4405_4406insTT

1 paper

NM_000051.4

p.I1469V

c.4405A>G

1 paper

NM_000051.4

p.I1469F

c.4405A>T

1 paper

NM_000051.4

p.Y1470H

c.4408T>C

1 paper

NM_000051.4

p.Y1470fs

c.4408_4409fs

1 paper

NM_000051.4

p.Y1470C

c.4409A>G

1 paper

NM_000051.4

p.V1468D

c.4403T>A

9 papers

NM_000051.4

p.V1468I

c.4402G>A

1 paper

NM_000051.4

p.T1471_L1472del2

c.4411_4415del6

1 paper

NM_000051.4

p.T1471insFs

c.4411_4412insT

2 papers

NM_000051.4

p.T1471S

c.4411A>T