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

2 papers

NM_000051.4

p.L33L

c.99G>C

Surrounding Variants

1 paper

NM_000051.4

p.I34fs

c.100_101fs

1 paper

NM_000051.4

p.I34_S47delFs

c.102_139del38

1 paper

NM_000051.4

p.L33Q

c.98T>A

2 papers

NM_000051.4

p.L33P

c.98T>C

33 papers

NM_000051.4

p.L33R

c.98T>G

1 paper

NM_000051.4

p.L33fs

c.97_98fs

1 paper

NM_000051.4

p.L33_I34ins0

c.99_101dupGAT

1 paper

NM_000051.4

p.L33L

c.97C>T

1 paper

NM_000051.4

p.I34N

c.101T>A

1 paper

NM_000051.4

p.I34I

c.102T>A

2 papers

NM_000051.4

p.I34I

c.102T>C

2 papers

NM_000051.4

p.R35R

c.103C>A