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.R1437R

c.4311A>G

Surrounding Variants

3 papers

NM_000051.4

p.R1437K

c.4310G>A

1 paper

NM_000051.4

p.R1437I

c.4310G>T

1 paper

NM_000051.4

p.R1437G

c.4309A>G

2 papers

NM_000051.4

p.R1437*

c.4309A>T

1 paper

NM_000051.4

p.R1437_I1441del0

c.4310_4321del12

1 paper

NM_000051.4

p.H1436R

c.4307A>G

2 papers

NM_000051.4

p.L1439I

c.4315C>A

2 papers

NM_000051.4

p.L1439F

c.4315C>T

14 papers

NM_000051.4

p.H1436Y

c.4306C>T

1 paper

NM_000051.4

p.H1436delFs

c.4307delA

1 paper

NM_000051.4

p.K1440_Y1442delFs

c.4319_4325del7

1 paper

NM_000051.4

p.K1440fs

c.4318_4319fs